R55C (p.Arg55Cys) variant of MCM6 (Q14566)
R55C (p.Arg55Cys) in MCM6 (Q14566) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.49 / 1. The record also includes population frequency data and structural context.
R55C (p.Arg55Cys) variant details
- p.Arg55Cys
- ESP rs139460893
- ExAC rs139460893
- TOPMed rs139460893
- gnomAD rs139460893
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.492
- REVEL 0.24
- CADD 32.00
- PolyPhen-2 0.86
- SIFT 0.01
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available